A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17038973



Internal ID93733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126261197..126269696hg38UCSC Ensembl
chr10:127949766..127958265hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501751
Supporting Variants
Samples
Known GenesADAM12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17038973
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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